Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA

Michael Litt; Patricia Kramer; Dante M. LaMorticella; William Murphey; Everett W. Lovrien; Richard G. Weleber

doi:10.1093/hmg/7.3.471

Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA

Michael Litt, Patricia Kramer, Dante M. LaMorticella, William Murphey, Everett W. Lovrien, Richard G. Weleber

Research output: Contribution to journal › Article › peer-review

425 Scopus citations

Abstract

Congenital cataracts are a common major abnormality of the eye that frequently cause blindness in infants. At least a third of all cases are familial; autosomal dominant congenital cataract (ADCC) appears to be the most common familial form in the Western world. We have mapped an ADCC gene in family ADCC-2 to chromosome 21q22.3 near the α-crystallin gene CRYAA. By sequencing the coding regions of CRYAA, we found that a missense mutation, R116C, is associated with ADCC in this family.

Original language	English (US)
Pages (from-to)	471-474
Number of pages	4
Journal	Human molecular genetics
Volume	7
Issue number	3
DOIs	https://doi.org/10.1093/hmg/7.3.471
State	Published - Mar 1998
Externally published	Yes

ASJC Scopus subject areas

Molecular Biology
Genetics
Genetics(clinical)

Access to Document

10.1093/hmg/7.3.471

Cite this

@article{52bf79b19faf48c4900de842b42e1486,

title = "Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA",

abstract = "Congenital cataracts are a common major abnormality of the eye that frequently cause blindness in infants. At least a third of all cases are familial; autosomal dominant congenital cataract (ADCC) appears to be the most common familial form in the Western world. We have mapped an ADCC gene in family ADCC-2 to chromosome 21q22.3 near the α-crystallin gene CRYAA. By sequencing the coding regions of CRYAA, we found that a missense mutation, R116C, is associated with ADCC in this family.",

author = "Michael Litt and Patricia Kramer and LaMorticella, {Dante M.} and William Murphey and Lovrien, {Everett W.} and Weleber, {Richard G.}",

year = "1998",

month = mar,

doi = "10.1093/hmg/7.3.471",

language = "English (US)",

volume = "7",

pages = "471--474",

journal = "Human molecular genetics",

issn = "0964-6906",

publisher = "Oxford University Press",

number = "3",

}

TY - JOUR

T1 - Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA

AU - Litt, Michael

AU - Kramer, Patricia

AU - LaMorticella, Dante M.

AU - Murphey, William

AU - Lovrien, Everett W.

AU - Weleber, Richard G.

PY - 1998/3

Y1 - 1998/3

N2 - Congenital cataracts are a common major abnormality of the eye that frequently cause blindness in infants. At least a third of all cases are familial; autosomal dominant congenital cataract (ADCC) appears to be the most common familial form in the Western world. We have mapped an ADCC gene in family ADCC-2 to chromosome 21q22.3 near the α-crystallin gene CRYAA. By sequencing the coding regions of CRYAA, we found that a missense mutation, R116C, is associated with ADCC in this family.

AB - Congenital cataracts are a common major abnormality of the eye that frequently cause blindness in infants. At least a third of all cases are familial; autosomal dominant congenital cataract (ADCC) appears to be the most common familial form in the Western world. We have mapped an ADCC gene in family ADCC-2 to chromosome 21q22.3 near the α-crystallin gene CRYAA. By sequencing the coding regions of CRYAA, we found that a missense mutation, R116C, is associated with ADCC in this family.

UR - http://www.scopus.com/inward/record.url?scp=0031934121&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0031934121&partnerID=8YFLogxK

U2 - 10.1093/hmg/7.3.471

DO - 10.1093/hmg/7.3.471

M3 - Article

C2 - 9467006

AN - SCOPUS:0031934121

SN - 0964-6906

VL - 7

SP - 471

EP - 474

JO - Human molecular genetics

JF - Human molecular genetics

IS - 3

ER -

Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA

Abstract

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this